MCID: MRF001
MIFTS: 75

Marfan Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Marfan Syndrome

MalaCards integrated aliases for Marfan Syndrome:

Name: Marfan Syndrome 53 12 72 72 23 49 24 55 71 36 28 13 51 40 41 14 37 69 59
Mfs 53 24 55 71
Marfan's Syndrome 12 24
Mfs1 53 71
Marfanoid Hypermobility Syndrome 69
Marfan Syndrome, Type I; Mfs1 53
Contractural Arachnodactyly 49
Marfan Syndrome, Type I 53
Marfan Syndrome Type 1 71
Islr Protein, Mouse 41

Characteristics:

Orphanet epidemiological data:

55
marfan syndrome
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
about 25% of cases due to new mutations


HPO:

31
marfan syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Although intrafamilial clinical variability can be extensive, marfan syndrome shows high clinical penetrance...

Classifications:



Summaries for Marfan Syndrome

MedlinePlus : 40 Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Marfan Syndrome, also known as mfs, is related to neonatal marfan syndrome and loeys-dietz syndrome, and has symptoms including myalgia, cachexia and hemoptysis. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Atenolol and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are cardiovascular system and growth/size/body region

OMIM : 53 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations. (154700)

UniProtKB/Swiss-Prot : 71 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

NIH Rare Diseases : 49 Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. Last updated: 1/26/2017

Genetics Home Reference : 24 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

Disease Ontology : 12 A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.

PubMed Health : 59
About marfan syndrome: Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

GeneReviews: NBK1335

Related Diseases for Marfan Syndrome

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 219)
# Related Disease Score Top Affiliating Genes
1 neonatal marfan syndrome 34.0 DCN FBN1
2 loeys-dietz syndrome 31.7 ACTA2 FBN1 TGFBR1 TGFBR2
3 connective tissue disease 31.2 ACTA2 COL1A2 ELN FBN1 FBN2
4 aortic aneurysm, familial thoracic 1 31.2 ACTA2 ELN FBN1 MMP2 TGFBR1 TGFBR2
5 aneurysm 30.6 ACTA2 ELN TGFBR1 TGFBR2
6 scoliosis 30.3 COL1A2 FBN1 FBN2
7 lens subluxation 30.3 CBS FBN1
8 pneumothorax 30.3 ELN FBN1 MMP2
9 orthostatic intolerance 30.2 AGTR1 ELN FBN1
10 familial thoracic aortic aneurysm and dissection 29.9 FBN1 TGFBR1 TGFBR2
11 stiff skin syndrome 29.9 COL1A2 FBN1
12 aortic aneurysm 29.7 ACTA2 ELN FBN1 MMP2 TGFBR1 TGFBR2
13 aortic aneurysm, familial abdominal, 1 29.6 DCN ELN FBN1 MMP2
14 hereditary hemorrhagic telangiectasia 29.6 BMP6 TGFBR1 TGFBR2
15 weill-marchesani syndrome 29.5 FBN1 FBN2 LTBP2
16 aortic disease 29.5 ACTA2 ELN FBN1 MMP2 TGFBR1 TGFBR2
17 scleroderma, familial progressive 29.4 BMP6 CD36 COL1A2 FBN1
18 brittle bone disorder 29.4 CD36 COL1A2 DCN
19 loeys-dietz syndrome 2 11.8
20 arthrogryposis, distal, type 9 11.4
21 pneumothorax, primary spontaneous 11.3
22 mycosis fungoides 11.3
23 mass syndrome 11.2
24 scoliosis, isolated 1 11.2
25 marfan lipodystrophy syndrome 11.1
26 homocystinuria due to cystathionine beta-synthase deficiency 11.0
27 achard syndrome 10.8
28 ectopia lentis 1, isolated, autosomal dominant 10.8
29 marfanoid hypermobility syndrome 10.8
30 shprintzen-goldberg craniosynostosis syndrome 10.8
31 ectopia lentis 2, isolated, autosomal recessive 10.8
32 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 10.8
33 lujan-fryns syndrome 10.8
34 arachnoid cysts 10.8
35 marfanoid habitus-autosomal recessive intellectual disability syndrome 10.8
36 mounier-kuhn syndrome 10.8
37 pectus carinatum 10.8
38 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.5 ELN FBN1
39 late-onset focal dermal elastosis 10.5 ELN FBN1
40 familial abdominal aortic aneurysm 10.5 ELN FBN1
41 transient hypogammaglobulinemia of infancy 10.5 TGFBR1 TGFBR2
42 transient hypogammaglobulinemia 10.4 TGFBR1 TGFBR2
43 isolated ectopia lentis 10.4 CBS FBN1
44 chronic actinic dermatitis 10.4 ELN FBN1
45 marden-walker syndrome 10.4 FBN1 FBN2
46 mid-dermal elastolysis 10.4 ELN FBN1
47 dental pulp calcification 10.4 FBN1 FBN2 TGFBR2
48 collagen disease 10.3 COL1A2 ELN FBN1
49 senile ectropion 10.3 ELN MMP2
50 multiple self-healing squamous epithelioma 10.3 TGFBR1 TGFBR2

Comorbidity relations with Marfan Syndrome via Phenotypic Disease Network (PDN):


Aortic Valve Disease 1

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to Marfan Syndrome

Symptoms & Phenotypes for Marfan Syndrome

Symptoms via clinical synopsis from OMIM:

53
ChestRibsSternumClaviclesAndScapulae:
pectus excavatum
pectus carinatum
pectus asymmetric sternum

HeadAndNeckMouth:
narrow palate
high-arched palate

MuscleSoftTissue:
decreased muscle mass
decreased subcutaneous fat

CardiovascularHeart:
congestive heart failure
mitral regurgitation
mitral valve prolapse
tricuspid valve prolapse
aortic regurgitation
more
SkeletalLimbs:
genu recurvatum
joint hypermobility
joint contractures
long bone overgrowth (dolichostenomelia)

CardiovascularVascular:
aortic dissection
pulmonary artery dilatation
aortic root dilatation
ascending aortic aneurysm
aneurysm of other aortic segments rare

SkeletalHands:
arachnodactyly

HeadAndNeckTeeth:
crowded teeth

GrowthOther:
puberty-associated peak in growth velocity is 2.4 years earlier for males and 2.2 years earlier for females

Skeletal:
premature arthritis

LaboratoryAbnormalities:
decreased fibrillin-1 immunostaining in the dermis

SkeletalSpine:
scoliosis
spondylolisthesis
kyphoscoliosis
thoracic lordosis
lumbosacral dural ectasia

SkeletalFeet:
pes planus
pes cavus
hammer toes
long, narrow feet
medial rotation of the medial malleolus

HeadAndNeckFace:
micrognathia
retrognathia
malar hypoplasia
long, narrow face

HeadAndNeckHead:
dolichocephaly

HeadAndNeckEyes:
myopia
retinal detachment
ectopia lentis
increased axial globe length
downslanting palpebral fissures
more
SkinNailsHairSkin:
striae distensae
decreased subcutaneous fat

RespiratoryLung:
pneumothorax
emphysema in most severe presentation
pulmonary blebs

GrowthHeight:
mean length at birth 53 +/- 4.4 cm for males
mean length at birth 52.5 +/- 3.5 cm for females
mean adult height 191.3 +/- 9 cm for males
mean adult height 175.4 +/- 8.2 cm for females
disproportionate tall stature, upper to lower segment ratio less than 0.85
more
AbdomenExternalFeatures:
recurrent or incisional hernia

SkeletalPelvis:
protrusio acetabulae


Clinical features from OMIM:

154700

Human phenotypes related to Marfan Syndrome:

55 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
2 cachexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0004326
3 hemoptysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002105
4 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
5 osteopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000938
6 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
7 sleep disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0002360
8 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
9 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
10 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
11 open bite 55 31 occasional (7.5%) Occasional (29-5%) HP:0010807
12 pectus carinatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000768
13 pes planus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001763
14 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
15 osteoporosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000939
16 emphysema 55 31 occasional (7.5%) Occasional (29-5%) HP:0002097
17 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
18 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
19 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 retrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000278
21 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
22 dolichocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000268
23 attention deficit hyperactivity disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007018
24 high, narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0002705
25 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
26 arterial dissection 55 31 occasional (7.5%) Occasional (29-5%) HP:0005294
27 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
28 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
29 striae distensae 55 31 hallmark (90%) Very frequent (99-80%) HP:0001065
30 arachnodactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001166
31 disproportionate tall stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0001519
32 slender build 55 31 hallmark (90%) Very frequent (99-80%) HP:0001533
33 spontaneous pneumothorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0002108
34 chronic fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012432
35 narrow face 55 31 frequent (33%) Frequent (79-30%) HP:0000275
36 dental crowding 55 31 frequent (33%) Frequent (79-30%) HP:0000678
37 ectopia lentis 55 31 Frequent (79-30%) HP:0001083
38 lens subluxation 55 31 frequent (33%) Frequent (79-30%) HP:0001132
39 joint hypermobility 55 31 frequent (33%) Frequent (79-30%) HP:0001382
40 mitral valve prolapse 55 31 frequent (33%) Frequent (79-30%) HP:0001634
41 protrusio acetabuli 55 31 frequent (33%) Frequent (79-30%) HP:0003179
42 arthralgia/arthritis 55 31 frequent (33%) Frequent (79-30%) HP:0005059
43 lens luxation 55 31 frequent (33%) Frequent (79-30%) HP:0012019
44 dural ectasia 55 31 frequent (33%) Frequent (79-30%) HP:0100775
45 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
46 meningocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002435
47 limited elbow movement 55 31 occasional (7.5%) Occasional (29-5%) HP:0002996
48 spondylolisthesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003302
49 mitral valve calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0004382
50 pulmonary artery dilatation 55 31 occasional (7.5%) Occasional (29-5%) HP:0004927

MGI Mouse Phenotypes related to Marfan Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ACTA2 AGTR1 CD36 COL1A2 FBN1 FBN2
2 growth/size/body region MP:0005378 10.06 AGTR1 BMP6 CD36 COL1A2 DCN EGF
3 muscle MP:0005369 9.91 ACTA2 CD36 COL1A2 DCN FBN1 FBN2
4 respiratory system MP:0005388 9.7 FBN1 FBN2 LTBP2 MMP2 TGFBR1 TGFBR2
5 skeleton MP:0005390 9.61 CD36 COL1A2 DCN FBN1 FBN2 MMP2
6 vision/eye MP:0005391 9.23 ACTA2 CD36 DCN EGF FBN2 LTBP2

Drugs & Therapeutics for Marfan Syndrome

PubMedHealth treatment related to Marfan Syndrome: 59

Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early.Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms.

Drugs for Marfan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
2
Perindopril Approved Phase 4,Phase 3 107133-36-8, 82834-16-0 107807
3
Verapamil Approved Phase 4 52-53-9 2520
4 Adrenergic Agents Phase 4,Phase 3,Phase 2
5 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
6 Adrenergic beta-1 Receptor Antagonists Phase 4,Phase 3,Phase 2
7 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2
8 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
9 Antihypertensive Agents Phase 4,Phase 3,Phase 2
10 Autonomic Agents Phase 4,Phase 3,Phase 2
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
13 Sympatholytics Phase 4,Phase 3,Phase 2
14 Vasodilator Agents Phase 4,Phase 3,Phase 2
15 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3
16 calcium channel blockers Phase 4
17 Calcium, Dietary Phase 4
18 HIV Protease Inhibitors Phase 4,Phase 3
19
protease inhibitors Phase 4,Phase 3
20
Angiotensin II Approved, Investigational Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
21
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
22
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
23 Angiotensin II Type 1 Receptor Blockers Phase 3,Phase 2
24 Angiotensin Receptor Antagonists Phase 3,Phase 2
25 Angiotensinogen Phase 3,Phase 2
26 Adrenergic Agonists Phase 3
27 Adrenergic beta-Agonists Phase 3
28 Mitogens Phase 3
29
Propranolol Approved, Investigational Phase 2 525-66-6 4946
30
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
31
Irbesartan Approved, Investigational Phase 2 138402-11-6 3749
32 Anti-Bacterial Agents Phase 2
33 Anti-Infective Agents Phase 2
34 Antimalarials Phase 2
35 Antiparasitic Agents Phase 2
36 Antiprotozoal Agents Phase 2
37 Anesthetics

Interventional clinical trials:

(show all 32)

# Name Status NCT ID Phase Drugs
1 Comparison of Medical Therapies in Marfan Syndrome. Completed NCT01295047 Phase 4 Atenolol;VERAPAMIL;Perindopril
2 Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome Unknown status NCT01145612 Phase 3 Losartan;Atenolol
3 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
4 Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients Unknown status NCT00683124 Phase 3 Losartan and nebivolol;Losartan;Nebivolol
5 Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome Completed NCT00485368 Phase 3 Coversyl (perindopril)
6 Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart Network Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
7 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
8 Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS Completed NCT01715207 Phase 3 Aliskiren;Atenolol
9 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
10 Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
11 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
12 A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome Unknown status NCT00651235 Phase 2 Losartan and Atenolol or Propranolol;Atenolol or Propranolol
13 The Oxford Marfan Trial Unknown status NCT01949233 Phase 2 Irbesartan 150-300mg capsules daily for 6 months;Doxycycline 100-200mg capsules daily for 6 months;Doxycycline placebo capsules daily for 6 months;Irbesartan placebo capsules daily for 6 months
14 Losartan Versus Atenolol for the Treatment of Marfan Syndrome Completed NCT00593710 Phase 2 Losartan;Atenolol
15 Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary Emphysema Withdrawn NCT01849159 Phase 1, Phase 2
16 Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells Unknown status NCT02815072
17 Thoracic Aortic Dilatation Syndromes Unknown status NCT02111668
18 Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis Unknown status NCT00006393
19 Clinical Variability in Marfan Syndrome Completed NCT01707563
20 Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome Completed NCT01760668
21 Glucose-dependent Asprosin Dynamics Completed NCT03358121
22 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
23 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
24 Study of Heritable Connective Tissue Disorders Completed NCT00001641
25 Family Myopia Study Completed NCT00341549
26 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
27 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
28 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
29 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
30 Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome. Not yet recruiting NCT03236571
31 Efficacy in Daily Use of a Novel Skin Care Product for the Treatment of Photoaged Skin Not yet recruiting NCT03144193
32 Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart Disease Withdrawn NCT01300221

Search NIH Clinical Center for Marfan Syndrome

Cochrane evidence based reviews: marfan syndrome

Genetic Tests for Marfan Syndrome

Genetic tests related to Marfan Syndrome:

# Genetic test Affiliating Genes
1 Marfan Syndrome 28 FBN1

Anatomical Context for Marfan Syndrome

MalaCards organs/tissues related to Marfan Syndrome:

38
Heart, Bone, Eye, Lung, Skin, Testes, Spinal Cord

Publications for Marfan Syndrome

Articles related to Marfan Syndrome:

(show top 50) (show all 957)
# Title Authors Year
1
Inhibition of Marfan Syndrome Aortic Root Dilation by Losartan: Role of Angiotensin II Receptor Type 1-Independent Activation of Endothelial Function. ( 29433732 )
2018
2
Rupture of an Abdominal Aortic Aneurysm in a Young Man with Marfan Syndrome. ( 29421423 )
2018
3
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. ( 29357934 )
2018
4
Small Bowel Diverticulosis and Jejunal Perforation in Marfan Syndrome. ( 29392152 )
2018
5
The Effect of a Non-peptide Angiotensin II type 2 receptor Agonist, Compound 21, on Aortic Aneurysm Growth in a Mouse Model of Marfan Syndrome. ( 29300219 )
2018
6
Marfan syndrome presenting with diffuse emphysematous change of the lung. ( 29431101 )
2018
7
Minimally Invasive Mitral Valve Repair in a Woman with Marfan Syndrome and Type B Dissection. ( 29430431 )
2018
8
Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago. ( 29336629 )
2018
9
Pathogenesis of aortic wall complications in Marfan syndrome. ( 29433109 )
2018
10
Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features? ( 29307552 )
2018
11
Laparoscopic repair of a complex Morgagni hernia in a patient with Marfan syndrome. ( 29316125 )
2018
12
Valve-sparing aortic root replacement in patients with Marfan syndrome-the Homburg experience. ( 29270383 )
2017
13
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15. ( 27739187 )
2017
14
Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. ( 28468757 )
2017
15
A Case of Acute Paraplegia Due to Aortic Dissection in Marfan Syndrome. ( 28479826 )
2017
16
Marfan syndrome with pneumothorax: case report and review of literatures. ( 29312774 )
2017
17
Accuracy of pedicle screw placement in patients with Marfan syndrome. ( 28327138 )
2017
18
Aortic valve repair in patients with Marfan syndrome-the "Brussels approach". ( 29270384 )
2017
19
Pregnancy-related acute aortic dissection in Marfan syndrome: A review of the literature. ( 28371362 )
2017
20
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. ( 27914124 )
2017
21
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg. ( 28321935 )
2017
22
Characterization of pain, disability, and psychological burden in Marfan syndrome. ( 27862906 )
2017
23
Biometric and structural ocular manifestations of Marfan syndrome. ( 28931008 )
2017
24
Longitudinal Evaluation of Aortic Hemodynamics in Marfan Syndrome: New Insights from a 4D Flow Cardiovascular Magnetic Resonance Multi-Year Follow-Up Study. ( 28327193 )
2017
25
Paranoid schizophrenia in a woman with Marfan syndrome. ( 29424882 )
2017
26
Thoracoabdominal aortic aneurysm repair in Marfan syndrome: how we do it. ( 29270385 )
2017
27
Neonatal Marfan syndrome diagnosed prenatally. ( 28157248 )
2017
28
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
29
Oral manifestations of a rare variant of Marfan syndrome. ( 28878896 )
2017
30
Infective endocarditis caused by Pseudomonas stutzeri in a patient with Marfan syndrome: Case report and brief literature review. ( 28831383 )
2017
31
A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling. ( 28925368 )
2017
32
A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl. ( 28442527 )
2017
33
Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model. ( 28947563 )
2017
34
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )
2017
35
Marfan Syndrome: Staging Nonsurgical vs Surgical Treatments in Children With Subluxated Lenses and Refractive Problems. ( 28338994 )
2017
36
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. ( 27893734 )
2017
37
Oxidation injury and local mediator interplay in Marfan syndrome. ( 28466775 )
2017
38
High-Resolution Morphological Approach to Analyse Elastic Laminae Injuries of the Ascending Aorta in a Murine Model of Marfan Syndrome. ( 28473723 )
2017
39
Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome. ( 29430308 )
2017
40
Interventional Spine Considerations for Dural Ectasia in a Patient With Marfan Syndrome. ( 28350559 )
2017
41
Importance of Early Detection and Cardiovascular Surgical Intervention in Marfan Syndrome. ( 28759513 )
2017
42
A Novel Murine Model of Marfan Syndrome Accelerates Aortopathy and Cardiomyopathy. ( 28347539 )
2017
43
Importance of Early Detection and Cardiovascular Surgical Intervention in Marfan Syndrome. ( 28759515 )
2017
44
The Structural Role of Elastic Fibers in the Cornea Investigated Using a Mouse Model for Marfan Syndrome. ( 28395026 )
2017
45
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome. ( 28842177 )
2017
46
Sex, pregnancy and aortic disease in Marfan syndrome. ( 28708846 )
2017
47
Ectopia Lentis with Microspherophakia in Marfan Syndrome Resolved with Mydriasis. ( 28823347 )
2017
48
A novel FBN1 mutation causes autosomal dominant Marfan syndrome. ( 28944857 )
2017
49
Two-Stage Elephant Trunk approach for open management of distal aortic arch and descending aortic pathology in patients with Marfan syndrome. ( 29270386 )
2017
50
Skeletal evolution in Marfan syndrome: Growth curves from French national cohort. ( 28846673 )
2017

Variations for Marfan Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

71 (show top 50) (show all 320)
# Symbol AA change Variation ID SNP ID
1 FBN1 p.Cys111Arg VAR_002276
2 FBN1 p.Arg122Cys VAR_002277 rs137854467
3 FBN1 p.Cys129Tyr VAR_002278
4 FBN1 p.Cys166Phe VAR_002279
5 FBN1 p.Cys166Ser VAR_002280
6 FBN1 p.Trp217Gly VAR_002281
7 FBN1 p.Cys476Gly VAR_002282
8 FBN1 p.Asp490Tyr VAR_002283
9 FBN1 p.Arg545Cys VAR_002284
10 FBN1 p.Asn548Ile VAR_002285 rs137854462
11 FBN1 p.Cys587Tyr VAR_002286
12 FBN1 p.Arg627Cys VAR_002287
13 FBN1 p.Cys661Arg VAR_002288
14 FBN1 p.Ala705Thr VAR_002289
15 FBN1 p.Cys711Tyr VAR_002290
16 FBN1 p.Asp723Ala VAR_002291 rs137854463
17 FBN1 p.Tyr746Cys VAR_002292
18 FBN1 p.Cys750Gly VAR_002293
19 FBN1 p.Cys862Arg VAR_002294
20 FBN1 p.Cys926Arg VAR_002295
21 FBN1 p.Val984Ile VAR_002296
22 FBN1 p.Cys996Arg VAR_002297 rs140592
23 FBN1 p.Gly1013Arg VAR_002298 rs140593
24 FBN1 p.Lys1023Asn VAR_002299
25 FBN1 p.Lys1043Arg VAR_002300 rs137854472
26 FBN1 p.Ile1048Thr VAR_002301
27 FBN1 p.Cys1053Arg VAR_002303
28 FBN1 p.Cys1055Gly VAR_002304
29 FBN1 p.Asp1072Gly VAR_002306
30 FBN1 p.Glu1073Lys VAR_002307 rs137854478
31 FBN1 p.Cys1074Arg VAR_002308 rs137854465
32 FBN1 p.Cys1086Trp VAR_002309
33 FBN1 p.Cys1117Gly VAR_002310
34 FBN1 p.Cys1117Tyr VAR_002311 rs137854470
35 FBN1 p.Gly1127Ser VAR_002312 rs137854468
36 FBN1 p.Arg1137Pro VAR_002314 rs137854456
37 FBN1 p.Cys1153Tyr VAR_002316 rs140599
38 FBN1 p.Asp1155Asn VAR_002317
39 FBN1 p.Arg1170His VAR_002318 rs137854475
40 FBN1 p.Cys1171Trp VAR_002319
41 FBN1 p.Asn1173Lys VAR_002320
42 FBN1 p.Cys1223Tyr VAR_002321 rs137854469
43 FBN1 p.Cys1242Tyr VAR_002322 rs137854471
44 FBN1 p.Cys1249Ser VAR_002323 rs137854458
45 FBN1 p.Asn1382Ser VAR_002324
46 FBN1 p.Asp1404Tyr VAR_002325
47 FBN1 p.Cys1513Arg VAR_002326
48 FBN1 p.Cys1589Phe VAR_002327
49 FBN1 p.Cys1610Gly VAR_002328
50 FBN1 p.Cys1663Arg VAR_002329 rs137854459

ClinVar genetic disease variations for Marfan Syndrome:

6 (show top 50) (show all 414)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4: c.7455_7821del deletion Pathogenic
2 FBN1 NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter) single nucleotide variant Pathogenic rs267606796 GRCh37 Chromosome 15, 48703535: 48703535
3 FBN1 NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser) single nucleotide variant Pathogenic rs137854458 GRCh37 Chromosome 15, 48776107: 48776107
4 FBN1 NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg) single nucleotide variant Pathogenic rs137854459 GRCh37 Chromosome 15, 48756174: 48756174
5 FBN1 NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser) single nucleotide variant Pathogenic rs137854460 GRCh37 Chromosome 15, 48725140: 48725140
6 FBN1 NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr) single nucleotide variant Pathogenic rs137854470 GRCh37 Chromosome 15, 48779622: 48779622
7 FBN1 NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr) single nucleotide variant Pathogenic rs137854471 GRCh37 Chromosome 15, 48776128: 48776128
8 FBN1 NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter) single nucleotide variant Pathogenic rs267606797 GRCh37 Chromosome 15, 48729559: 48729559
9 FBN1 NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser) single nucleotide variant Pathogenic rs137854461 GRCh37 Chromosome 15, 48729223: 48729223
10 FBN1 NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile) single nucleotide variant Pathogenic rs137854462 GRCh37 Chromosome 15, 48802312: 48802312
11 FBN1 NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala) single nucleotide variant Pathogenic rs137854463 GRCh37 Chromosome 15, 48789588: 48789588
12 FBN1 NM_000138.4(FBN1): c.6739+1G> C single nucleotide variant Pathogenic rs869025419 GRCh38 Chromosome 15, 48432865: 48432865
13 FBN1 NM_000138.4(FBN1): c.7339G> A (p.Glu2447Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854464 GRCh37 Chromosome 15, 48717680: 48717680
14 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh37 Chromosome 15, 48703477: 48703477
15 FBN1 NM_000138.4(FBN1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs137854467 GRCh37 Chromosome 15, 48892414: 48892414
16 FBN1 NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr) single nucleotide variant Pathogenic rs137854469 GRCh37 Chromosome 15, 48777615: 48777615
17 FBN1 NM_000138.4(FBN1): c.3192delA (p.Glu1065Lysfs) deletion Pathogenic rs1131692050 GRCh37 Chromosome 15, 48780581: 48780581
18 FBN1 FBN1, 33-BP INS, IVS46, G-A, +1 insertion Pathogenic
19 FBN1 NM_000138.4(FBN1): c.6354C> T (p.Ile2118=) single nucleotide variant Pathogenic/Likely pathogenic rs112989722 GRCh37 Chromosome 15, 48729544: 48729544
20 FBN1 NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg) single nucleotide variant Pathogenic rs137854474 GRCh37 Chromosome 15, 48776060: 48776060
21 FBN1 NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter) single nucleotide variant Pathogenic rs137854476 GRCh37 Chromosome 15, 48805749: 48805749
22 FBN1 NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg) single nucleotide variant Pathogenic rs140593 GRCh37 Chromosome 15, 48782093: 48782093
23 FBN1 NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys) single nucleotide variant Pathogenic rs137854478 GRCh37 Chromosome 15, 48780430: 48780430
24 FBN1 FBN1, IVS46+5G-A single nucleotide variant Pathogenic
25 FBN1 NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys) single nucleotide variant Pathogenic rs137854479 GRCh37 Chromosome 15, 48789495: 48789495
26 FBN1 NM_000138.4(FBN1): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic rs137854480 GRCh37 Chromosome 15, 48829826: 48829826
27 FBN1 NM_000138.4(FBN1): c.3095G> A (p.Cys1032Tyr) single nucleotide variant Pathogenic rs137854481 GRCh37 Chromosome 15, 48780678: 48780678
28 FBN1 NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr) single nucleotide variant Pathogenic rs137854482 GRCh37 Chromosome 15, 48779586: 48779586
29 FBN1 NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr) single nucleotide variant Pathogenic rs137854483 GRCh37 Chromosome 15, 48777621: 48777621
30 FBN1 NC_000015.9: g.48793164_49095744del302581 deletion Pathogenic GRCh37 Chromosome 15, 48793164: 49095744
31 FBN1 FBN1, EX13-49DEL deletion Pathogenic
32 FBN1 NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser) single nucleotide variant Pathogenic rs387906623 GRCh37 Chromosome 15, 48752455: 48752455
33 FBN1 NM_000138.4(FBN1): c.2369G> C (p.Cys790Ser) single nucleotide variant Likely pathogenic rs193922188 GRCh37 Chromosome 15, 48788347: 48788347
34 FBN1 NM_000138.4(FBN1): c.1211delC (p.Pro404Hisfs) deletion Pathogenic/Likely pathogenic rs112289537 GRCh37 Chromosome 15, 48808496: 48808496
35 FBN1 NM_000138.4(FBN1): c.1634G> A (p.Arg545His) single nucleotide variant Likely pathogenic rs193922179 GRCh37 Chromosome 15, 48802321: 48802321
36 FBN1 NM_000138.4(FBN1): c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla) duplication Likely pathogenic rs193922181 GRCh37 Chromosome 15, 48802278: 48802286
37 FBN1 NM_000138.4(FBN1): c.1709delG (p.Cys570Leufs) deletion Likely pathogenic rs193922182 GRCh37 Chromosome 15, 48802246: 48802246
38 FBN1 NM_000138.4(FBN1): c.1710T> A (p.Cys570Ter) single nucleotide variant Likely pathogenic rs193922183 GRCh37 Chromosome 15, 48802245: 48802245
39 FBN1 NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys) single nucleotide variant Pathogenic/Likely pathogenic rs193922185 GRCh37 Chromosome 15, 48797234: 48797234
40 FBN1 NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp) single nucleotide variant Pathogenic rs140603 GRCh37 Chromosome 15, 48796042: 48796042
41 FBN1 NM_000138.4(FBN1): c.2057C> A (p.Ala686Asp) single nucleotide variant Likely pathogenic rs193922186 GRCh37 Chromosome 15, 48796040: 48796040
42 FBN1 NM_000138.4(FBN1): c.2186delT (p.Leu729Glnfs) deletion Likely pathogenic rs193922187 GRCh37 Chromosome 15, 48789570: 48789570
43 FBN1 NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193921256 GRCh37 Chromosome 15, 48787772: 48787772
44 FBN1 NM_000138.4(FBN1): c.2479T> C (p.Ser827Pro) single nucleotide variant Likely pathogenic rs193922189 GRCh37 Chromosome 15, 48787726: 48787726
45 FBN1 NM_000138.4(FBN1): c.2542A> C (p.Thr848Pro) single nucleotide variant Likely pathogenic rs193922191 GRCh37 Chromosome 15, 48787455: 48787455
46 FBN1 NM_000138.4(FBN1): c.266G> C (p.Cys89Ser) single nucleotide variant Likely pathogenic rs112660651 GRCh37 Chromosome 15, 48903005: 48903005
47 FBN1 NM_000138.4(FBN1): c.2677G> C (p.Asp893His) single nucleotide variant Likely pathogenic rs193922193 GRCh37 Chromosome 15, 48787320: 48787320
48 FBN1 NM_000138.4(FBN1): c.2682delC (p.Ile895Tyrfs) deletion Likely pathogenic rs193922194 GRCh37 Chromosome 15, 48786447: 48786447
49 FBN1 NM_000138.4(FBN1): c.2855-1G> C single nucleotide variant Likely pathogenic rs112202622 GRCh37 Chromosome 15, 48782276: 48782276
50 FBN1 NM_000138.4(FBN1): c.3140_3141delCC (p.Thr1047Asnfs) deletion Likely pathogenic rs193922197 GRCh37 Chromosome 15, 48780632: 48780633

Copy number variations for Marfan Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 92862 15 44800000 49500000 Deletion FBN1 Marfan syndrome

Expression for Marfan Syndrome

Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for Marfan Syndrome

Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 ACTA2 BMP6 COL1A2 EGF ELN FBN1
2
Show member pathways
13.14 ACTA2 BMP6 EGF LTBP2 TGFBR1 TGFBR2
3
Show member pathways
12.9 AGTR1 BMP6 EGF LTBP2 TGFBR1
4
Show member pathways
12.79 ACTA2 CD36 COL1A2 EGF ELN FBN1
5 12.71 AGTR1 EGF MMP2 TGFBR1 TGFBR2
6
Show member pathways
12.7 ACTA2 BMP6 COL1A2 EGF ELN FBN1
7
Show member pathways
12.52 COL1A2 DCN ELN FBN1 FBN2 LTBP2
8
Show member pathways
12.47 ACTA2 COL1A2 MMP2 TGFBR1 TGFBR2
9 12.09 EGF MMP2 TGFBR1 TGFBR2
10
Show member pathways
12.08 ACTA2 COL1A2 ELN FBN1 FBN2 MMP2
11
Show member pathways
12.02 EGF MMP2 TGFBR1 TGFBR2
12 12.01 BMP6 TGFBR1 TGFBR2
13
Show member pathways
12.01 EGF TGFBR1 TGFBR2
14
Show member pathways
11.99 CD36 COL1A2 FBN1
15
Show member pathways
11.95 EGF TGFBR1 TGFBR2
16 11.95 ACTA2 AGTR1 TGFBR1
17 11.92 COL1A2 TGFBR1 TGFBR2
18 11.88 ACTA2 BMP6 MMP2 TGFBR1 TGFBR2
19 11.84 CD36 COL1A2 MMP2
20 11.79 ACTA2 BMP6 DCN EGF
21 11.7 BMP6 DCN TGFBR1 TGFBR2
22 11.65 AGTR1 COL1A2 MMP2 TGFBR1 TGFBR2
23
Show member pathways
11.6 ELN FBN1 FBN2 LTBP2
24 11.56 EGF ELN MMP2
25 11.52 EGF TGFBR1 TGFBR2
26
Show member pathways
11.52 EGF MMP2 TGFBR1 TGFBR2
27 11.24 COL1A2 DCN MMP2
28 10.95 TGFBR1 TGFBR2
29 10.84 TGFBR1 TGFBR2
30 10.82 BMP6 COL1A2 EGF ELN FBN1 FBN2
31 10.5 AGTR1 FBN1 FBN2 LTBP2 TGFBR1 TGFBR2

GO Terms for Marfan Syndrome

Cellular components related to Marfan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 BMP6 COL1A2 DCN EGF ELN FBN1
2 extracellular space GO:0005615 9.81 ACTA2 BMP6 CD36 COL1A2 DCN EGF
3 receptor complex GO:0043235 9.56 CD36 EGF TGFBR1 TGFBR2
4 extracellular matrix GO:0031012 9.5 COL1A2 DCN ELN FBN1 FBN2 LTBP2
5 microfibril GO:0001527 9.4 FBN1 FBN2
6 transforming growth factor beta receptor complex GO:0070022 9.37 TGFBR1 TGFBR2
7 proteinaceous extracellular matrix GO:0005578 9.17 COL1A2 DCN ELN FBN1 FBN2 LTBP2

Biological processes related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 ACTA2 CD36 EGF TGFBR1
2 animal organ morphogenesis GO:0009887 9.74 DCN ELN TGFBR2
3 skeletal system development GO:0001501 9.71 BMP6 COL1A2 FBN1 TGFBR1
4 wound healing GO:0042060 9.7 DCN TGFBR1 TGFBR2
5 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 TGFBR1 TGFBR2
6 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.56 AGTR1 CD36
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.56 COL1A2 LTBP2 TGFBR1 TGFBR2
8 positive regulation of SMAD protein import into nucleus GO:0060391 9.55 BMP6 TGFBR1
9 extracellular matrix organization GO:0030198 9.55 COL1A2 DCN ELN FBN1 FBN2
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFBR1 TGFBR2
11 response to cholesterol GO:0070723 9.51 TGFBR1 TGFBR2
12 positive regulation of reactive oxygen species metabolic process GO:2000379 9.5 AGTR1 CD36 TGFBR2
13 embryonic eye morphogenesis GO:0048048 9.49 FBN1 FBN2
14 bone trabecula formation GO:0060346 9.48 FBN2 MMP2
15 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.46 TGFBR1 TGFBR2
16 regulation of cellular response to growth factor stimulus GO:0090287 9.43 FBN1 FBN2
17 sequestering of TGFbeta in extracellular matrix GO:0035583 9.37 FBN1 FBN2
18 kidney development GO:0001822 9.35 AGTR1 BMP6 DCN FBN1 TGFBR1
19 extracellular matrix disassembly GO:0022617 9.02 DCN ELN FBN1 FBN2 MMP2

Molecular functions related to Marfan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosaminoglycan binding GO:0005539 9.43 DCN TGFBR2
2 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.4 TGFBR1 TGFBR2
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.37 TGFBR1 TGFBR2
4 SMAD binding GO:0046332 9.33 COL1A2 TGFBR1 TGFBR2
5 transforming growth factor beta-activated receptor activity GO:0005024 9.32 TGFBR1 TGFBR2
6 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN1 FBN2
7 transforming growth factor beta binding GO:0050431 9.13 CD36 TGFBR1 TGFBR2
8 extracellular matrix structural constituent GO:0005201 8.92 COL1A2 ELN FBN1 FBN2

Sources for Marfan Syndrome

3 CDC
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